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First enzyme replacement therapy started in utero shows promise in Pompe disease
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A foetus with Pompe’s disease received ultrasound monitored alglucosidase alfa every 2 weeks from 24 to 34 weeks of pregnancy (6 injections).
This baby girl continued to be treated after birth according to the standard of care (20mg/kg every fortnight, then 40mg/kg every fortnight from 9.6 months of age, then 40mg/kg every week from 11.3 months of age) for CRIM negative children.
The administration of alglucosidase alfa in utero was well tolerated.
The child was born at term by vaginal delivery and walked at the age of 11.5 months.
Her pre- and postnatal electrocardiograms and echocardiograms were normal, unlike those of her two sisters with the same mutationModification soudaine et transmissible du matériel génétique. Elle peut être spontanée ou induite par des agents dits » mutagènes » (radiations, produits toxiques,…). who died at 29 months and 8 months.
At 13 months, the girl has normal growth and motor development without cardiac pathology.
This first is part of a five-year phase IAu cours d’un essai clinique de phase I un médicament dont l’intérêt thérapeutique a été montré sur des modèles animaux et/ou cellulaires (essais précliniques) est administré pour la première fois à un petit groupe de volontaires sains, plus rarement à des malades, afin d’évaluer leur tolérance à la substance en fonction de la dose (Comment le futur traitement est-il absorbé et éliminé ? Comment se fait sa répartition dans les organes ? Est-il toxique et à quelles doses ? Existe-t-il des effets secondaires ?). clinical trial of in utero enzymeProtéine capable d’activer une réaction biochimique précise. replacement therapy (ERT) in eight lysosomal diseases with antenatal onset (NCT04532047). The aim is to limit the immune response, get the enzyme substitute into the central nervous system before the blood-brain barrier is established, and prevent the early development of irreversible organ damage.